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T. W. J. Hustinx

Radboud University Nijmegen

36

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1075

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Bloom's syndrome in two Dutch families

2008 Clinical Genetics
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AN X‐LINKED SYNDROME WITH MICROCEPHALY, SEVERE MENTAL RETARDATION, SPASTICITY, EPILEPSY AND DEAFNESS

2008 Journal of Intellectual Disability Research
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Chromosome studies in IgA‐deficient patients

2008 Clinical Genetics
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2:2 and 3:1 meiotic disjunctions in a carrier of a reciprocal 10/14 translocation.

2008 Clinical Genetics
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Heritable fragility at 11q13 and 12q13

2008 Clinical Genetics
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The Martin-Bell syndrome: a psychological, logopaedic and cytogenetic study of two affected brothers.

2008 Journal of Intellectual Disability Research
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Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs

2008 Clinical Genetics
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Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion.

2008 Clinical Genetics
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Trisomy for the short arm of chromosome No. 10

2008 Clinical Genetics
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Paracentric inversion inv(11) (q21q23) in the Netherlands

1990 Human Genetics
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